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Sickle Cell Anemia

Sickle cell anemia is a hereditary type of anemia. Anemia is a blood disorder marked by deficient levels of RBCs and insufficient supply of oxygen across the body.

 

The red blood cells/RBCs are normally circular and flexible, flowing freely via the blood vessels. In people with sickle cell anemia, the RBCs are sticky and stiff and shaped like crescent moons or sickles. The irregular shape of the cells can cause them to become trapped in the blood vessels which in turn can obstruct or slow down the supply of oxygen to different areas of the body.

Most cases of sickle cell anemia cannot be cured. Available treatment options can help alleviate pain and other symptoms as well as prevent the onset of health complications.

 

People who are carriers of sickle cell anemia trait should seek genetic counseling before planning for a child. The counselor will help understand all the involved risks, and explain all possible reproductive, preventive, and treatment options.

 

Symptoms

The symptoms of sickle cell anemia do not occur till a baby has reached the age of 4 months. A few common signs and symptoms are listed below:

  • Anemia: The sickle cells are delicate and easily come apart and die, thereby leaving the body without an adequate amount of RBCs. The normal lifespan of red blood cells is about 120 days after which they die and get replaced by the bone marrow. Sickle cells tend to die in less than 19 to 20 days, which causes a perennial deficit in the supply of RBCs.  This eventually results in low oxygen circulation across the body, deficient energy, and excess fatigue.
  • Hand-foot syndrome: It is one of the first indications of sickle cell anemia in infants and is marked by swelling of the feet and hands. The swelling occurs due to obstructions in blood supply to the feet and hands, by the sickle shaped RBCs.
  • Periodic bouts of pain: Crises, i.e., bouts of pain, is another primary symptom of sickle cell anemia. Pain occurs when the sickle shaped RBCs obstruct the passage of blood across the small blood vessels present in the abdomen, chest, and joints. Joint pain may also be noticed. The pain can persist for some hours or even some weeks. Some patients may suffer from just 2 to 3 bouts of pain in a year, while others may be bombarded with 12 or more instances of crises per year. Serious cases of crises need to be remedied via hospitalization.
  • Persistent and regular infections: Spleen is an organ that helps fight infections. Sickle cells tend to injure the spleen, thereby increasing the risk to varied and frequent infections. A physician will prescribe antibiotics and vaccinations for affected children so as to prevent the onset of deadly infections like pneumonia.
  • Vision abnormalities: Some patients of sickle cell anemia may suffer from sight problems. It may occur when the sickle cells clog the tiny vessels that supply oxygen to the eyes. Such blockages can also damage the retina and disrupt the processing of visual data/images.
  • Delays in growth and development: RBCs help transfer nutrients and oxygen to all the parts of the body. These are essential for growth. Deficient supply of RBCs can reduce the speed of normal growth in infants as well as delay the onset of puberty.

Some of the complications associated with sickle cell anemia include acute chest syndrome, stroke, skin ulcers, pulmonary hypertension, blindness, priapism, gallstones, and life-threatening damage of vital organs like the liver kidneys, spleen, etc.

 

Causes of sickle cell anemia

Sickle cell anemia is an inherited disease caused due to errors in a gene that passes instructions for manufacture of hemoglobin, an iron-abundant red compound which imparts the red color to the blood. Hemoglobin is also instrumental in the transfer of oxygen via RBCs to varied areas of the body. Presence of irregular hemoglobin is what causes the occurrence of sticky, stiff, and irregularly shaped RBCs in sickle cell anemia patients.

The defective gene associated with sickle cell anemia is passed down families in an autosomal recessive pattern of inheritance. It means that the father as well as the mother must pass on the mutated gene to the unborn child for the development of sickle cell anemia.

If the genetic defect is passed down by only one parent, then the child will exhibit the sickle cell trait, wherein one copy of the hemoglobin gene is mutated, while the other copy is normal. Thus, the blood/body will feature both sickle cell and normal hemoglobin. Affected infants may not experience any serious symptoms, but become carriers of the condition and as adults can pass the mutated gene to their offspring. If both parents are carriers of sickle cell trait, then each pregnancy comes with the below mentioned risk:

  • A 50% risk of having a child who is carrier
  • A 25% percent risk of having a normal child with unaffected hemoglobin.
  • A 25% percent risk of having a child affected by sickle cell anemia.

Thus, only if both the parents are carriers of the mutated sickle cell anemia gene, then the child will have the disease. The genetic defect associated with sickle cell anemia is more prevalent in people from India, Africa, Saudi Arabia, Mediterranean nations, Central and South America, and the Caribbean Islands. African Americans are also carriers of the gene.

Treatment

The only probable cure for sickle cell anemia is bone marrow transplant. The procedure however comes with severe risks, including fatality as well as difficulties in finding a donor. Hence, treatment is focused on alleviation of symptoms, regular RBC count checkups, and prevention of health complications. A few treatment options are:

  • Medications such as painkillers to ease pain, antibiotics for bacterial infections, and hydroxyurea to decrease the frequency of crises.
  • Blood transfusions for increasing RBC count and reducing the risk to stroke.
  • Supplemental oxygen for adding oxygen to blood and enhancing the breathing processes.

Sickle cell anemia life expectancy

Life expectancy of sickle cell patients is lower than that of healthy people. Advances in medical care have however helped prolong the lifespan of patients. In the US, the average life expectancy of affected women is 48 years, while it is 42 years in male patients.

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